Hypophosphatämische Rachitis mit Hyperparathyroidismus
Die hypophosphatämische Rachitis mit Hyperparathyroidismus wird durch Mutationen am Klotho-Locus ausgelöst die zu einer massiven Aktivitätsvermehrung führen.
| Hypophosphatämie | |
 |
Die Hypophosphatämie tritt bei aktivierenden Klotho-Mutationen infolge einer vermehrten renalen Phosphat-Ausscheidung auf. |
| Hyperphosphaturie | |
|
Die Hyperphosphaturie bei aktivierenden Klotho-Mutationen ist Folge einer Verminderung der Phosphattransporter in der Niere. |
| Hypercalciämie | |
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Die Hypercalciämie bei aktivierenden Klotho-Mutationen ist sicher sekundäre Folge des gestörten Phosphat-, PTH- und Vitamin D-Stoffwechsels. |
| Hyperparathyreoidismus | |
|
Ein Hyperparathyreoidismus scheint typisch für aktivierende Klotho-Mutationen |
| Vitamin D-Hypovitaminose | |
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Der Calcitriolmangel beruht auf vermindertes Synthese und verstärktem Abbau. |
Gliederung
Referenzen:
| 1. |
Urakawa I et al. (2006) Klotho converts canonical FGF receptor into a specific receptor for FGF23. [^] |
| 2. |
Kurosu H et al. (2005) Suppression of aging in mice by the hormone Klotho. [^] |
| 3. |
Chen CD et al. (2007) Insulin stimulates the cleavage and release of the extracellular domain of Klotho by ADAM10 and ADAM17. [^] |
| 4. |
Ichikawa S et al. (2007) A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. [^] |
| 5. |
Kuro-o M et al. (1997) Mutation of the mouse klotho gene leads to a syndrome resembling ageing. [^] |
| 6. |
Matsumura Y et al. (1998) Identification of the human klotho gene and its two transcripts encoding membrane and secreted klotho protein. [^] |
| 7. |
Saito Y et al. (2000) In vivo klotho gene delivery protects against endothelial dysfunction in multiple risk factor syndrome. [^] |
| 8. |
Mori K et al. (2000) Disruption of klotho gene causes an abnormal energy homeostasis in mice. [^] |
| 9. |
Koh N et al. (2001) Severely reduced production of klotho in human chronic renal failure kidney. [^] |
| 10. |
Arking DE et al. (2002) Association of human aging with a functional variant of klotho. [^] |
| 11. |
Fukino K et al. (2002) Regulation of angiogenesis by the aging suppressor gene klotho. [^] |
| 12. |
Manya H et al. (2002) Klotho protein deficiency leads to overactivation of mu-calpain. [^] |
| 13. |
Arking DE et al. (2003) KLOTHO allele status and the risk of early-onset occult coronary artery disease. [^] |
| 14. |
Bektas A et al. (2004) Klotho gene variation and expression in 20 inbred mouse strains. [^] |
| 15. |
Chang Q et al. (2005) The beta-glucuronidase klotho hydrolyzes and activates the TRPV5 channel. [^] |
| 16. |
Haruna Y et al. (2007) Amelioration of progressive renal injury by genetic manipulation of Klotho gene. [^] |
| 17. |
Imura A et al. (2007) alpha-Klotho as a regulator of calcium homeostasis. [^] |
| 18. |
Liu H et al. (2007) Augmented Wnt signaling in a mammalian model of accelerated aging. [^] |
| 19. |
Brownstein CA et al. (2008) A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism. [^] |
| 20. |
OMIM.ORG article Omim 604824 [^] |
